rs142439586

This is a intron variant variant in the LAMP3 gene.

▶

GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

lysosome-associated membrane glycoprotein 3 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.25
p 2.0e-12
N 47,745
Large GWAS
European

About LAMP3

This gene encodes lysosome-associated membrane glycoprotein 3, a type 1 integral membrane protein that belongs to a family of lysosome associated membrane proteins which form part of the glycoconjugate coat present on the inside of the lysosomal membrane. It is predominantly expressed in mature dendritic cells and serves as a marker of dendritic cell maturation. The encoded protein localizes primarily to late endosomes/lysosomes and the MHC class II compartment, where it contributes to antigen processing and presentation during adaptive immune responses. The expression of this gene is inducible under hypoxic conditions via hypoxia-inducible factor 1-alpha signaling. In cancer, this gene is frequently overexpressed and is associated with tumor progression, metastasis, therapy resistance, and poor clinical prognosis in multiple malignancies including breast, cervical, and ovarian cancers. [provided by RefSeq, Feb 2026]

View all LAMP3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…